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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827759620
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194932
ClinVar RCV Id:
RCV000175413
RCV000544348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Phe1278Ser
CA241171
NM_001353949.2:c.3833T>C